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Muscular Dystrophy Essay

2861 words - 11 pages

Muscular Dystrophy

It is only recently that medicine, biology and even health care have become not only a primary concern of society but also one of the central focuses of mainstream media. Indeed it is rare that a day goes by without an article on these topics on the cover of newspapers such as The New York Times. Whereas this type of information used to be reserved for people in the field, daily program's such as CNN's Your Health have brought the science and the debates around it to the center of our society. This essay shall focus on one of the most talked about, common and painful genetic disorders. After explaining what the symptoms and causes for muscular dystrophy are we shall reflect upon the moral, ethical and practical debates that surround the technology being developed for the prevention, screening and curing of the disorder.

The term muscular dystrophy is used generically to encompass several muscular disorders present at birth and probably all genetically inherited. These cause progressive weakness, disability and ultimately death which occurs in adolescence from secondary infections or intractable congestive heart failure (Complete Home Medical Guide, Pg 636-637). From a clinical point of view there are at least six major forms of the disease. Although from a clinical point of view there are differences between the different types, they all share the same pathological findings (Textbook of child neurology, Pg. 826). Duchenne dystrophy is the most severe and probably the best known (Complete Home Medical Guide, Pg. 637), it will also be the one studied in this essay.

The initial complaint in most boys with muscular dystrophy is a gait disturbance. This always happens before the age of 5 and usually before the children turn 3. Early symptoms such as toe-walking, frequent falling and delayed achievement of walking are usually dismissed by parents and physicians as simple clumsiness. However, the disease progresses to the point that the children have difficulty rising from the floor and have an obvious waddling gait. This decline in motor strength remains linear. The symptoms accentuate themselves between the age of 3 and 8. On average, functional ability declines rapidly after age 8. By their 9th year some become confined to the wheelchair and by their 12th year most cannot remain ambulatory (Clinical pediatric neurology, Pg. 182). Other symptoms include large and rubbery calf muscles and in Duchenne muscular dystrophy an IQ that is significantly lower than the average, the mean IQ of affected children being of only 85. More importantly the pelvic weakness that prevented them from rising from the floor can increase to such a degree that breathing becomes difficult and some patients can die of chocking.

Duchenne muscular dystrophy has a worldwide distribution, with a mean incidence of 1 per 3,500 male births (Clinical Pediatric Neurology, Pg. 180). The children lead a life ridden with difficulty and physical pain. While...

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